Alopecia universalis congenita (ALUNC; MIM 203655) is an autosomal recessive disorder caused by mutations in the HR gene. It is characterized by complete absence of scalp and body hair at birth or shortly after birth. Skin biopsy shows hair follicles without hair.  Atrichia with papular lesions (APL; MIM 209500) is also an autosomal recessive disorder caused by mutations in HR.read more

Tests Available

By gene: HR
Next Generation Sequencing
$900
Test Code: 2451
Deletion / Duplication
$900
Test Code: 2452
NGS/Del Dup Comprehensive
$1,100
Test Code: 2453

Test Details

Technical Information
Genes: 
HR
Disease Groups: 
Skin, Tooth, Nail and Hair Disorders
Billing
Price: 
$900
CPT Codes: 
81479 x 1
Ordering
SKU:
2451
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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